Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: MCOLN1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000469074.1:p.Val75Leu	CA403153002 ENST00000601003.1:c.223G>C CA403153003 ENST00000601003.1:c.223G>T